scispace - formally typeset
Journal ArticleDOI

Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20

Reads0
Chats0
TLDR
To identify multiple sclerosis (MS) susceptibility loci, a genome-wide association study in 1,618 cases and used shared data for 3,413 controls and observed a statistical interaction between SNPs in EVI5-RPL5 and HLA-DR15.
Abstract
To identify multiple sclerosis (MS) susceptibility loci, we conducted a genome-wide association study (GWAS) in 1,618 cases and used shared data for 3,413 controls. We performed replication in an independent set of 2,256 cases and 2,310 controls, for a total of 3,874 cases and 5,723 controls. We identified risk-associated SNPs on chromosome 12q13-14 (rs703842, P = 5.4 x 10(-11); rs10876994, P = 2.7 x 10(-10); rs12368653, P = 1.0 x 10(-7)) and upstream of CD40 on chromosome 20q13 (rs6074022, P = 1.3 x 10(-7); rs1569723, P = 2.9 x 10(-7)). Both loci are also associated with other autoimmune diseases. We also replicated several known MS associations (HLA-DR15, P = 7.0 x 10(-184); CD58, P = 9.6 x 10(-8); EVI5-RPL5, P = 2.5 x 10(-6); IL2RA, P = 7.4 x 10(-6); CLEC16A, P = 1.1 x 10(-4); IL7R, P = 1.3 x 10(-3); TYK2, P = 3.5 x 10(-3)) and observed a statistical interaction between SNPs in EVI5-RPL5 and HLA-DR15 (P = 0.001).

read more

Citations
More filters
Journal ArticleDOI

Mechanisms underlying inflammation in neurodegeneration.

TL;DR: There is evidence for a remarkable convergence in the mechanisms responsible for the sensing, transduction, and amplification of inflammatory processes that result in the production of neurotoxic mediators in neurodegenerative diseases.
Journal ArticleDOI

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Stephen Sawcer, +265 more
- 10 Aug 2011 - 
TL;DR: In this article, a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, they have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci.
Journal ArticleDOI

Vitamin D and Multiple Sclerosis

TL;DR: The results of these studies support a protective effect of vitamin D, but there are uncertainties and many unanswered questions, including how vitamin D exerts a Protective effect, how genetic variations modify the effect, and whether vitamin D can influence the course of MS progression.
Journal ArticleDOI

Gender differences in autoimmune disease.

TL;DR: Gender differences in systemic and organ-specific autoimmune diseases are considered, and human data is summarized that outlines the prevalence of common autoimmune diseases specific to adult males and females in countries commonly surveyed.
References
More filters
Journal ArticleDOI

PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

TL;DR: This work introduces PLINK, an open-source C/C++ WGAS tool set, and describes the five main domains of function: data management, summary statistics, population stratification, association analysis, and identity-by-descent estimation, which focuses on the estimation and use of identity- by-state and identity/descent information in the context of population-based whole-genome studies.
Journal ArticleDOI

Haploview: analysis and visualization of LD and haplotype maps

TL;DR: Haploview is a software package that provides computation of linkage disequilibrium statistics and population haplotype patterns from primary genotype data in a visually appealing and interactive interface.
Journal ArticleDOI

Vitamin D Deficiency

TL;DR: The role of vitamin D in skeletal and nonskeletal health is considered and strategies for the prevention and treatment ofitamin D deficiency are suggested.
Journal ArticleDOI

Principal components analysis corrects for stratification in genome-wide association studies

TL;DR: This work describes a method that enables explicit detection and correction of population stratification on a genome-wide scale and uses principal components analysis to explicitly model ancestry differences between cases and controls.
Related Papers (5)

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

Stephen Sawcer, +265 more
- 10 Aug 2011 - 

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

Paul Burton, +224 more
- 01 Nov 2007 -